ClinVar Miner

List of variants in gene GLDC reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 332
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000170.3(GLDC):c.470+125T>C rs2118653 0.65503
NM_000170.3(GLDC):c.1850+87T>A rs968197 0.52530
NM_000170.3(GLDC):c.1708-222G>A rs7022724 0.52408
NM_000170.3(GLDC):c.1708-171C>T rs7021684 0.51841
NM_000170.3(GLDC):c.2315+111C>T rs4740848 0.49930
NM_000170.3(GLDC):c.2839-57A>G rs2282160 0.42304
NM_000170.3(GLDC):c.2839-201G>A rs2282159 0.42094
NM_000170.3(GLDC):c.2919+242C>T rs2282162 0.40594
NM_000170.3(GLDC):c.2569+269T>C rs28499127 0.40420
NM_000170.3(GLDC):c.636-77A>G rs10975681 0.30978
NM_000170.3(GLDC):c.256-240G>A rs1755617 0.28160
NM_000170.3(GLDC):c.471-232A>C rs12341084 0.27737
NC_000009.12:g.6645911C>T rs7023606 0.27342
NM_000170.3(GLDC):c.2315+80C>G rs12683164 0.27069
NM_000170.3(GLDC):c.1261+72G>A rs6477094 0.25439
NM_000170.3(GLDC):c.1261+334C>T rs10975669 0.25012
NM_000170.3(GLDC):c.1482+171A>G rs62568998 0.23175
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000170.3(GLDC):c.2203-298T>C rs1929933 0.21451
NM_000170.3(GLDC):c.1261+36A>G rs11789777 0.20837
NM_000170.3(GLDC):c.2838+89C>A rs3765555 0.20824
NM_000170.3(GLDC):c.1059-169G>A rs12683330 0.20375
NM_000170.3(GLDC):c.1058+144A>T rs41303229 0.18888
NM_000170.3(GLDC):c.1058+247T>A rs62569040 0.18428
NM_000170.3(GLDC):c.2569+261C>T rs145062104 0.14982
NM_000170.3(GLDC):c.2570-195A>G rs2297443 0.14749
NM_000170.3(GLDC):c.2839-269G>A rs2282158 0.14601
NM_000170.3(GLDC):c.2919+272T>A rs3818705 0.14198
NM_000170.3(GLDC):c.470+189G>C rs4740853 0.14131
NM_000170.3(GLDC):c.2315+289C>T rs62568964 0.10824
NM_000170.3(GLDC):c.1482+281T>C rs113326675 0.07694
NM_000170.3(GLDC):c.660C>T (p.Leu220=) rs2228095 0.07130
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_000170.3(GLDC):c.713+204G>T rs13298254 0.06284
NM_000170.3(GLDC):c.1708-76G>A rs113794486 0.05397
NM_000170.3(GLDC):c.2202+303C>G rs16924687 0.04776
NM_000170.3(GLDC):c.1262-81C>G rs73400317 0.04699
NM_000170.3(GLDC):c.1851-268G>A rs16924691 0.04254
NM_000170.3(GLDC):c.2569+265T>G rs112627227 0.04181
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
NM_000170.3(GLDC):c.471-107T>C rs116286048 0.03452
NM_000170.3(GLDC):c.470+76C>T rs115202450 0.03321
NM_000170.3(GLDC):c.470+177G>A rs114125810 0.03315
NM_000170.3(GLDC):c.1401+48_1401+49insC rs374237787 0.02900
NM_000170.3(GLDC):c.1401+48T>C rs79260957 0.02573
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_000170.3(GLDC):c.1155+43C>T rs7040427 0.02526
NM_000170.3(GLDC):c.1059-122T>C rs7026782 0.02519
NM_000170.3(GLDC):c.862-66C>G rs7019384 0.02508
NM_000170.3(GLDC):c.714-36G>A rs7023971 0.02495
NM_000170.3(GLDC):c.1707+174G>A rs45582831 0.02441
NM_000170.3(GLDC):c.1156-56A>G rs112438601 0.02436
NM_000170.3(GLDC):c.1156-153A>T rs57964364 0.02434
NM_000170.3(GLDC):c.1156-204C>T rs59998046 0.02433
NM_000170.3(GLDC):c.1482+19T>C rs79114789 0.02433
NM_000170.3(GLDC):c.1402-299T>C rs80185476 0.02430
NM_000170.3(GLDC):c.1402-294A>C rs77756489 0.02426
NM_000170.3(GLDC):c.1262-208T>G rs79119366 0.02382
NM_000170.3(GLDC):c.1927-172C>T rs78216226 0.02258
NM_000170.3(GLDC):c.1156-293A>G rs6477095 0.02230
NM_000170.3(GLDC):c.671G>A (p.Arg224His) rs28617412 0.02214
NM_000170.3(GLDC):c.1262-272C>T rs189987755 0.02110
NM_000170.3(GLDC):c.1581-118G>A rs78650694 0.02087
NM_000170.3(GLDC):c.1058+81C>G rs113067442 0.02002
NM_000170.3(GLDC):c.862-111G>T rs7020315 0.01979
NM_000170.3(GLDC):c.256-217A>C rs58925857 0.01973
NM_000170.3(GLDC):c.636-29C>T rs111289173 0.01928
NM_000170.3(GLDC):c.1580+56T>C rs80318432 0.01800
NM_000170.3(GLDC):c.1483-122A>T rs74719183 0.01793
NM_000170.3(GLDC):c.1483-156C>A rs115703938 0.01789
NM_000170.3(GLDC):c.335-53G>C rs59213782 0.01606
NM_000170.3(GLDC):c.2839-148T>C rs113830924 0.01588
NM_000170.3(GLDC):c.2838+177A>G rs115627735 0.01575
NM_000170.3(GLDC):c.2838+263T>C rs75645738 0.01571
NM_000170.3(GLDC):c.2919+289G>A rs75439312 0.01524
NC_000009.12:g.6645952G>A rs115605178 0.01512
NM_000170.3(GLDC):c.1156-266A>C rs57793935 0.01367
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000170.3(GLDC):c.2569+229T>G rs190998558 0.01233
NM_000170.3(GLDC):c.2203-19G>A rs13440229 0.01223
NM_000170.3(GLDC):c.334+292C>G rs112357157 0.01192
NM_000170.3(GLDC):c.2666-156A>G rs112921617 0.01132
NM_000170.3(GLDC):c.636-21T>A rs78949122 0.01076
NM_000170.3(GLDC):c.2839-294T>C rs112581576 0.01060
NM_000170.3(GLDC):c.256-253del rs142074946 0.01042
NM_000170.3(GLDC):c.*257G>A rs111326356 0.00972
NM_000170.3(GLDC):c.2666-134C>G rs149860035 0.00959
NM_000170.3(GLDC):c.1483-85G>A rs141351353 0.00886
NM_000170.3(GLDC):c.636-279C>A rs142517068 0.00886
NM_000170.3(GLDC):c.1402-62G>T rs41281775 0.00877
NM_000170.3(GLDC):c.2920-169G>A rs143140771 0.00851
NM_000170.3(GLDC):c.471-127G>C rs60858072 0.00740
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000170.3(GLDC):c.2202+190A>C rs149596639 0.00698
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000170.3(GLDC):c.470+310C>T rs115255756 0.00660
NM_000170.3(GLDC):c.2570-22C>G rs200609000 0.00632
NM_000170.3(GLDC):c.1482+282C>T rs150489509 0.00621
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_000170.3(GLDC):c.2570-264G>A rs147032304 0.00612
NM_000170.3(GLDC):c.635+286G>T rs112429519 0.00609
NM_000170.3(GLDC):c.1482+22G>A rs78073049 0.00585
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_000170.3(GLDC):c.2052+249C>G rs59823389 0.00540
NM_000170.3(GLDC):c.2569+292G>A rs186384743 0.00493
NM_000170.3(GLDC):c.2665+35G>A rs147640872 0.00490
NM_000170.3(GLDC):c.2920-168G>C rs12351820 0.00459
NM_000170.3(GLDC):c.1058+38A>G rs113320747 0.00455
NM_000170.3(GLDC):c.2457+8C>T rs147308839 0.00421
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000170.3(GLDC):c.1851-57T>C rs144562176 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000170.3(GLDC):c.1401+234A>G rs75008919 0.00395
NM_000170.3(GLDC):c.636-260C>T rs138439195 0.00350
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_000170.3(GLDC):c.470+174A>G rs148400315 0.00336
NM_000170.3(GLDC):c.334+67G>C rs139883661 0.00307
NM_000170.3(GLDC):c.2457+253C>T rs142919574 0.00290
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr) rs142099123 0.00261
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2748G>A (p.Leu916=) rs139982267 0.00203
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser) rs182760732 0.00197
NM_000170.3(GLDC):c.2569+296C>T rs181172238 0.00191
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_000170.3(GLDC):c.862-46A>G rs145666264 0.00180
NM_000170.3(GLDC):c.2955G>A (p.Thr985=) rs142004524 0.00131
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln) rs140516872 0.00127
NM_000170.3(GLDC):c.256-100C>T rs533513421 0.00126
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000170.3(GLDC):c.222C>T (p.Asp74=) rs148373517 0.00096
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696 0.00078
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000170.3(GLDC):c.470+11T>C rs142534180 0.00051
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_000170.3(GLDC):c.45G>A (p.Gly15=) rs577986419 0.00045
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe) rs374342418 0.00044
NM_000170.3(GLDC):c.1262-33A>G rs147414011 0.00043
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.698T>C (p.Val233Ala) rs140013612 0.00034
NM_000170.3(GLDC):c.1483-27C>T rs184908720 0.00032
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000170.3(GLDC):c.329C>A (p.Pro110His) rs371491621 0.00029
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg) rs190430477 0.00028
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_000170.3(GLDC):c.619C>G (p.Leu207Val) rs142181803 0.00027
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser) rs150943866 0.00026
NM_000170.3(GLDC):c.2316-13A>C rs200931138 0.00024
NM_000170.3(GLDC):c.1932C>T (p.Cys644=) rs111348076 0.00021
NM_000170.3(GLDC):c.2244G>A (p.Ser748=) rs372693840 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000170.3(GLDC):c.2352C>T (p.Pro784=) rs367781728 0.00017
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu) rs150698281 0.00016
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn) rs763471932 0.00014
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853 0.00014
NM_000170.3(GLDC):c.1851-9C>G rs377751310 0.00013
NM_000170.3(GLDC):c.1752T>C (p.Pro584=) rs150647379 0.00012
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter) rs191905539 0.00012
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000170.3(GLDC):c.2203-12C>T rs767258496 0.00010
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser) rs375850752 0.00010
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg) rs370061961 0.00010
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val) rs150833015 0.00009
NM_000170.3(GLDC):c.832G>A (p.Glu278Lys) rs779837711 0.00008
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr) rs775834004 0.00007
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser) rs555919940 0.00007
NM_000170.3(GLDC):c.661G>A (p.Val221Ile) rs144043066 0.00007
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys) rs141065026 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000170.3(GLDC):c.2216G>A (p.Arg739His) rs121964980 0.00006
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292 0.00006
NM_000170.3(GLDC):c.2810G>A (p.Arg937His) rs151100082 0.00006
NM_000170.3(GLDC):c.2919C>T (p.Leu973=) rs113736090 0.00006
NM_000170.3(GLDC):c.2920-8C>T rs138786708 0.00006
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys) rs139931025 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000170.3(GLDC):c.1149A>G (p.Thr383=) rs146499591 0.00005
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp) rs141875337 0.00005
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe) rs747736821 0.00005
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile) rs200413149 0.00005
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile) rs750883330 0.00004
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile) rs778376889 0.00004
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg) rs386833549 0.00004
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly) rs778000679 0.00004
NM_000170.3(GLDC):c.2565A>C (p.Ala855=) rs966395392 0.00004
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp) rs750964572 0.00004
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val) rs121964979 0.00003
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000170.3(GLDC):c.1483-6C>T rs1442788186 0.00003
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu) rs375497905 0.00003
NM_000170.3(GLDC):c.2316-1G>A rs386833554 0.00003
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn) rs770826242 0.00003
NM_000170.3(GLDC):c.2665+1G>C rs149070244 0.00003
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu) rs1207147043 0.00003
NM_000170.3(GLDC):c.1161C>T (p.Leu387=) rs781613958 0.00002
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln) rs777365335 0.00002
NM_000170.3(GLDC):c.1580+5G>C rs764790596 0.00002
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile) rs751822565 0.00002
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys) rs766928717 0.00002
NM_000170.3(GLDC):c.549G>A (p.Val183=) rs371771891 0.00002
NM_000170.3(GLDC):c.1182G>A (p.Met394Ile) rs1249681861 0.00001
NM_000170.3(GLDC):c.128del (p.Asp43fs) rs1251443902 0.00001
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro) rs756770984 0.00001
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp) rs773119895 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly) rs755680488 0.00001
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter) rs1554646529 0.00001
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu) rs1296797567 0.00001
NM_000170.3(GLDC):c.2053G>T (p.Val685Leu) rs367988640 0.00001
NM_000170.3(GLDC):c.2474G>A (p.Gly825Asp) rs906049409 0.00001
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu) rs374969047 0.00001
NM_000170.3(GLDC):c.328C>T (p.Pro110Ser) rs866641732 0.00001
NM_000170.3(GLDC):c.437C>T (p.Thr146Met) rs376578742 0.00001
NM_000170.3(GLDC):c.446G>A (p.Arg149Gln) rs538431715 0.00001
NM_000170.3(GLDC):c.503T>C (p.Val168Ala) rs1241332349 0.00001
NM_000170.3(GLDC):c.544A>G (p.Met182Val) rs541691467 0.00001
NM_000170.3(GLDC):c.63C>A (p.Arg21=) rs372141443 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000170.3(GLDC):c.838G>A (p.Val280Met) rs1258949524 0.00001
NM_000170.3(GLDC):c.862-12C>G rs767628262 0.00001
NC_000009.12:g.6645935G>A rs191237887
NM_000170.3(GLDC):c.*162G>A rs12350734
NM_000170.3(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.3(GLDC):c.1059-189dup rs879833847
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe) rs1563852496
NM_000170.3(GLDC):c.1261+183CTTT[6] rs78626191
NM_000170.3(GLDC):c.1261+183CTTT[8] rs78626191
NM_000170.3(GLDC):c.1261+183CTTT[9] rs78626191
NM_000170.3(GLDC):c.1261+216C>A rs140706192
NM_000170.3(GLDC):c.1262-296AT[10] rs34438524
NM_000170.3(GLDC):c.1262-296AT[11] rs34438524
NM_000170.3(GLDC):c.1262-298_1262-297insA rs1377266695
NM_000170.3(GLDC):c.1262-299_1262-298insA rs1466793435
NM_000170.3(GLDC):c.1262-318dup rs773281544
NM_000170.3(GLDC):c.1300T>C (p.Phe434Leu)
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met) rs1161073883
NM_000170.3(GLDC):c.1372A>T (p.Ile458Phe)
NM_000170.3(GLDC):c.1394A>G (p.Asp465Gly) rs2129852952
NM_000170.3(GLDC):c.1401+5G>A
NM_000170.3(GLDC):c.1401+64G>C rs77808781
NM_000170.3(GLDC):c.1402-84G>A rs76153763
NM_000170.3(GLDC):c.1482+283C>T rs140734664
NM_000170.3(GLDC):c.1484_1489del rs778109389
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu) rs761064507
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.1581-67G>T rs77712643
NM_000170.3(GLDC):c.1665+50G>C rs75713620
NM_000170.3(GLDC):c.1707+109G>T rs78601535
NM_000170.3(GLDC):c.172C>T (p.Pro58Ser) rs780963698
NM_000170.3(GLDC):c.1831G>C (p.Val611Leu) rs1554646513
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly) rs779980470
NM_000170.3(GLDC):c.1893C>T (p.Ala631=) rs565751857
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr) rs141601131
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp) rs1200000126
NM_000170.3(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.3(GLDC):c.2011G>C (p.Asp671His) rs2129734998
NM_000170.3(GLDC):c.2169G>T (p.Gln723His) rs2129725996
NM_000170.3(GLDC):c.2202+112C>T rs77765174
NM_000170.3(GLDC):c.2203-63C>G rs2274874
NM_000170.3(GLDC):c.2212T>G (p.Cys738Gly) rs375850752
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2297G>A (p.Gly766Asp)
NM_000170.3(GLDC):c.2316-13_2316-12dup rs3215923
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2353G>A (p.Val785Ile) rs372101832
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter) rs386833557
NM_000170.3(GLDC):c.2457+314A>G rs4512434
NM_000170.3(GLDC):c.2458-300C>G rs3739653
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.2462T>C (p.Met821Thr)
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg) rs946962875
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs) rs766762760
NM_000170.3(GLDC):c.2490G>T (p.Thr830=) rs145407593
NM_000170.3(GLDC):c.2510C>T (p.Ala837Val) rs1157130507
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter) rs1554643360
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln) rs1422108790
NM_000170.3(GLDC):c.255+240_255+242del rs144456963
NM_000170.3(GLDC):c.256-233G>C rs10975711
NM_000170.3(GLDC):c.2569+314A>G rs12347488
NM_000170.3(GLDC):c.2569+69C>A rs34948145
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met) rs375375700
NM_000170.3(GLDC):c.2617T>A (p.Ser873Thr)
NM_000170.3(GLDC):c.2632G>A (p.Ala878Thr) rs2129663107
NM_000170.3(GLDC):c.276G>C (p.Glu92Asp) rs2130029415
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2838+108C>G rs3765556
NM_000170.3(GLDC):c.2894C>T (p.Ser965Phe) rs1489390970
NM_000170.3(GLDC):c.2919+137T>C rs12339602
NM_000170.3(GLDC):c.2919+5G>T rs768091555
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys) rs1819702080
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile) rs2129641188
NM_000170.3(GLDC):c.3002C>T (p.Thr1001Ile) rs555776146
NM_000170.3(GLDC):c.334+1G>T rs978795483
NM_000170.3(GLDC):c.334+247G>C rs34073615
NM_000170.3(GLDC):c.335-106T>C rs139533511
NM_000170.3(GLDC):c.335-165del rs34280433
NM_000170.3(GLDC):c.43G>A (p.Gly15Arg)
NM_000170.3(GLDC):c.488C>T (p.Pro163Leu)
NM_000170.3(GLDC):c.502G>A (p.Val168Met) rs936791052
NM_000170.3(GLDC):c.580G>A (p.Ala194Thr)
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.635G>T (p.Arg212Ile) rs386833584
NM_000170.3(GLDC):c.636-126C>T rs147868538
NM_000170.3(GLDC):c.713+202G>A rs28367179
NM_000170.3(GLDC):c.713+262_713+267del rs1361187578
NM_000170.3(GLDC):c.713+263_713+264dup rs56758871
NM_000170.3(GLDC):c.713+263dup rs56758871
NM_000170.3(GLDC):c.713+280_713+282del rs56758871
NM_000170.3(GLDC):c.713+281_713+282del rs56758871
NM_000170.3(GLDC):c.714-15_714-13del rs780790361
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu) rs1038444873
NM_000170.3(GLDC):c.824A>T (p.Asp275Val)
NM_000170.3(GLDC):c.861+139C>A rs7019544
NM_000170.3(GLDC):c.861+37G>A rs141610980
NM_000170.3(GLDC):c.861+5G>C rs192663616
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
NM_000170.3(GLDC):c.932A>G (p.Asp311Gly) rs2129896343

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